Canonical Allele Identifier: CA415234539

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153761241G>T (hg19) ; chrX:g.154533026G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533026G>T , CM000685.2:g.154533026G>T	GRCh38
NC_000023.10:g.153761241G>T , CM000685.1:g.153761241G>T	GRCh37
NC_000023.9:g.153414435G>T	NCBI36
NG_009015.2:g.19547C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.967C>A	ENSP00000377194.2:p.Leu323Met
ENST00000439227.6:c.970C>A	ENSP00000395599.2:p.Leu324Met
ENST00000696420.1:c.967C>A	ENSP00000512615.1:p.Leu323Met
ENST00000696421.1:c.967C>A	ENSP00000512616.1:p.Leu323Met
ENST00000696422.1:c.830C>A
ENST00000696423.1:c.833C>A
ENST00000696424.1:c.819C>A	ENSP00000512619.1:n.819C>A
ENST00000696425.1:c.865-224C>A	ENSP00000512620.1:n.865-224C>A
ENST00000696426.1:c.*427C>A	ENSP00000512621.1:n.*427C>A
ENST00000696427.1:c.974C>A	ENSP00000512622.1:p.Pro325His
ENST00000696428.1:c.*809C>A	ENSP00000512623.1:n.*809C>A
ENST00000696429.1:c.967C>A	ENSP00000512624.1:p.Leu323Met
ENST00000696430.1:c.967C>A	ENSP00000512625.1:p.Leu323Met
ENST00000393562.10:c.967C>A MANE Select	ENSP00000377192.3:p.Leu323Met
ENST00000369620.6:c.1105C>A	ENSP00000358633.2:p.Leu369Met
ENST00000393562.6:c.1057C>A	ENSP00000377192.2:p.Leu353Met
ENST00000393564.6:c.967C>A	ENSP00000377194.2:p.Leu323Met
ENST00000439227.5:c.970C>A	ENSP00000395599.1:p.Leu324Met
ENST00000490651.1:n.49C>A
ENST00000621232.4:c.967C>A	ENSP00000483686.1:p.Leu323Met
NM_000402.4:c.1057C>A	NP_000393.4:p.Leu353Met
NM_001042351.2:c.967C>A	NP_001035810.1:p.Leu323Met
XM_005274657.2:c.1060C>A	XP_005274714.1:p.Leu354Met
XM_005274658.2:c.970C>A	XP_005274715.1:p.Leu324Met
XM_011531132.1:c.958-224C>A	XP_011529434.1:n.958-224C>A
NM_001360016.2:c.967C>A MANE Select	NP_001346945.1:p.Leu323Met
NM_001042351.3:c.967C>A	NP_001035810.1:p.Leu323Met